(used for variant description)
(last modified August 17, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001939.2 in the DRP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016403.1, covering DRP2 transcript NM_001939.2.
(upstream sequence)
g.5009
tagcaacac c.-361
. . . . . . g.5069
agagcagctctgagaggggaggaggaggagaagaaggaagacagggaagtgggagagaca c.-301
. . . . . . g.5129
gagggagagtgtgcatacagcagctgtcggcatccctgtctcagggacttctttgctgat c.-241
. . . . . . g.5189
tcacagaggcagcccagccccggcctcccagcttacagctgccgcctgcttctcagacct c.-181
. . | 02 . . . . g.9706
gacggaatcagaag | ctacataatattcgccgtgtgagtggctatcgtaatagataacatt c.-121
. . . . . . | 03 g.16644
tgaatatctactaaatgccagaaactatgaattaactcctctcaacaaagctaagag | gtg c.-61
. . . . . . g.16704
cttaatgatcaatagttggtgcactgcctatcctcatcccccccatgagccttggttttt c.-1
. . . . . . g.16764
ATGCAACCTATGGTCATGCAGGGATGCCCTTACACCCTCCCACGATGTCATGACTGGCAG c.60
M Q P M V M Q G C P Y T L P R C H D W Q p.20
. . . . . | 04. g.20919
GCAGCTGACCAGTTCCATCATAGCAGCAGCCTCCGAAGCACCTGCCCCCACCCTCAG | GTT c.120
A A D Q F H H S S S L R S T C P H P Q | V p.40
. . . . . . g.20979
AGAGCTGCTGTCACCAGCCCTGCACCTCCTCAAGATGGTGCTGGGGTTCCCTGCCTAAGC c.180
R A A V T S P A P P Q D G A G V P C L S p.60
. . . . . . g.21039
CTAAAGCTGTTGAACGGGTCTGTTGGTGCCTCTGGACCCCTGGAACCACCAGCCATGAAT c.240
L K L L N G S V G A S G P L E P P A M N p.80
. . . . | 05 . . g.22694
CTGTGTTGGAATGAAATAAAAAAGAAGTCTCACAACCTCCG | CGCTCGCCTAGAGGCCTTC c.300
L C W N E I K K K S H N L R | A R L E A F p.100
. . . . . . g.22754
TCAGACCACAGTGGAAAGCTTCAGCTCCCTCTTCAAGAGATTATTGACTGGCTCAGCCAA c.360
S D H S G K L Q L P L Q E I I D W L S Q p.120
. . . . . . g.22814
AAGGATGAGGAGTTGTCAGCTCAGCTGCCCCTACAGGGGGATGTGGCCCTGGTGCAACAG c.420
K D E E L S A Q L P L Q G D V A L V Q Q p.140
. | 06 . . . . g.24079
GAGAAGGAGACACATGCG | GCCTTTATGGAAGAAGTCAAGTCTCGGGGCCCCTACATCTAT c.480
E K E T H A | A F M E E V K S R G P Y I Y p.160
. . . . . . g.24139
TCTGTGCTGGAGTCAGCTCAGGCCTTCCTGTCCCAGCACCCATTTGAGGAGTTAGAGGAG c.540
S V L E S A Q A F L S Q H P F E E L E E p.180
. | 07 . . . . g.26765
CCTCATTCTGAGAGCAAAG | ATACCTCCCCGAAACAGCGGATCCAGAATCTCAGCCGCTTT c.600
P H S E S K D | T S P K Q R I Q N L S R F p.200
. . . . . . g.26825
GTATGGAAGCAGGCGACGGTGGCCAGTGAACTGTGGGAGAAGTTGACAGCCCGCTGTGTG c.660
V W K Q A T V A S E L W E K L T A R C V p.220
. . . . . . g.26885
GACCAGCACCGTCACATTGAGCGGACTCTGGAGCAGCTCTTGGAGATTCAAGGGGCAATG c.720
D Q H R H I E R T L E Q L L E I Q G A M p.240
. . . . . . g.26945
GAGGAACTAAGCACTACTCTGAGCCAAGCTGAGGGAGTCCGAGCCACTTGGGAGCCCATT c.780
E E L S T T L S Q A E G V R A T W E P I p.260
. . . . | 08 . g.27393
GGGGATCTCTTCATTGATTCACTCCCAGAGCACATCCAGGCTATTAAG | CTGTTCAAAGAA c.840
G D L F I D S L P E H I Q A I K | L F K E p.280
. . . . . . g.27453
GAATTCTCCCCCATGAAAGATGGAGTAAAGTTGGTGAATGATCTGGCCCACCAACTTGCC c.900
E F S P M K D G V K L V N D L A H Q L A p.300
. . . . . . g.27513
ATTTCTGATGTGCACTTGTCAATGGAGAATTCCCAGGCCCTGGAACAGATCAACGTCCGA c.960
I S D V H L S M E N S Q A L E Q I N V R p.320
. | 09 . . . . . g.28005
TGGAAACAACTACAG | GCGTCAGTTAGTGAGAGGCTTAAGCAGCTCCAGGATGCCCACCGG c.1020
W K Q L Q | A S V S E R L K Q L Q D A H R p.340
. . . | 10 . . . g.30099
GACTTTGGGCCTGGGTCACAGCACTTTCTCTCCT | CCTCTGTCCAGGTTCCCTGGGAAAGA c.1080
D F G P G S Q H F L S S | S V Q V P W E R p.360
. . . | 11 . . . g.30469
GCAATTTCACCCAATAAAGTTCCCTACTACATCAA | CCACCAGGCTCAGACCACATGCTGG c.1140
A I S P N K V P Y Y I N | H Q A Q T T C W p.380
. . . | 12. . . g.32169
GACCATCCCAAGATGACAGAGTTATACCAAACCCTAG | CTGATCTGAACAACATTAAGTTC c.1200
D H P K M T E L Y Q T L A | D L N N I K F p.400
. . . . . | 13 . g.33153
TCAGCTTATCGCACTGCCATGAAACTCCGCAGAGTCCAGAAAGCCCTGCGCT | TGGACCTG c.1260
S A Y R T A M K L R R V Q K A L R L | D L p.420
. . . . . . g.33213
GTAACTTTAACCACAGCCCTGGAAATCTTCAATGAGCATGATCTGCAGGCCAGTGAGCAC c.1320
V T L T T A L E I F N E H D L Q A S E H p.440
. . . . . . g.33273
GTGATGGATGTGGTAGAGGTCATTCACTGCCTGACTGCCTTATATGAACGTTTGGAGGAG c.1380
V M D V V E V I H C L T A L Y E R L E E p.460
. . . . . . g.33333
GAAAGAGGCATCCTGGTCAACGTGCCACTCTGTGTGGACATGAGCCTCAATTGGCTCCTC c.1440
E R G I L V N V P L C V D M S L N W L L p.480
. | 14 . . . . . g.33616
AATGTTTTTGATAG | TGGTCGCAGCGGAAAGATGCGGGCATTGTCTTTTAAGACTGGCATT c.1500
N V F D S | G R S G K M R A L S F K T G I p.500
. . . . | 15 . . g.35499
GCATGCTTGTGTGGCACGGAAGTGAAGGAAAAACTTCAGT | ACCTCTTCAGCCAAGTGGCC c.1560
A C L C G T E V K E K L Q Y | L F S Q V A p.520
. . . . . . g.35559
AACTCAGGCAGCCAGTGTGACCAGCGCCACCTTGGTGTCCTGCTTCATGAGGCCATTCAG c.1620
N S G S Q C D Q R H L G V L L H E A I Q p.540
. . . . . . g.35619
GTGCCCCGTCAGCTGGGTGAAGTGGCAGCCTTTGGGGGCAGCAATGTGGAGCCCAGTGTC c.1680
V P R Q L G E V A A F G G S N V E P S V p.560
. | 16 . . . . g.36015
CGTAGTTGCTTCCGTTTT | AGCACCGGGAAGCCAGTCATTGAAGCATCCCAGTTCCTGGAG c.1740
R S C F R F | S T G K P V I E A S Q F L E p.580
. . . . . . g.36075
TGGGTCAACCTGGAGCCCCAGTCCATGGTGTGGCTGGCTGTTCTGCATCGGGTCACCATT c.1800
W V N L E P Q S M V W L A V L H R V T I p.600
. . . . . . g.36135
GCTGAGCAAGTGAAGCATCAGACCAAGTGCTCTATCTGTAGGCAGTGCCCCATCAAGGGG c.1860
A E Q V K H Q T K C S I C R Q C P I K G p.620
| 17 . . . . . . g.37716
TTCAG | GTACCGGAGTCTGAAGCAATTCAACGTTGACATCTGCCAGACCTGCTTCTTGACA c.1920
F R | Y R S L K Q F N V D I C Q T C F L T p.640
. . . . . | 18. g.39484
GGCAGGGCCAGCAAAGGCAATAAGCTGCACTACCCCATCATGGAGTATTACACACCG | ACC c.1980
G R A S K G N K L H Y P I M E Y Y T P | T p.660
. . . . . . g.39544
ACATCCAGTGAGAACATGAGGGACTTTGCCACAACCTTAAAGAACAAATTCCGCTCCAAG c.2040
T S S E N M R D F A T T L K N K F R S K p.680
. . . . . . g.39604
CATTATTTCAGCAAACACCCTCAGCGAGGTTATCTGCCTGTGCAATCAGTGCTGGAGGCT c.2100
H Y F S K H P Q R G Y L P V Q S V L E A p.700
. | 19 . . . . . g.39961
GACTACAGTGAGAC | GCCGGCTTCTTCCCCGATGTGGCCACACGCCGACACACACTCCCGA c.2160
D Y S E T | P A S S P M W P H A D T H S R p.720
. . | 20 . . . . g.40280
ATTGAGCATTTTGCCAGCAG | GCTTGCTGAGATGGAAAGTCAAAATTGCTCCTTCTTTAAT c.2220
I E H F A S R | L A E M E S Q N C S F F N p.740
. . | 21 . . . . g.41208
GACAGCTTGTCCCCAGATGACAGCAT | AGACGAGGACCAGTACCTGCTGCGGCACTCCAGC c.2280
D S L S P D D S I | D E D Q Y L L R H S S p.760
. . . . . . g.41268
CCCATCACAGACCGGGAGCCAGCCTTTGGACAGCAGGCTCCATGCAGTGTGGCCACAGAA c.2340
P I T D R E P A F G Q Q A P C S V A T E p.780
. . . . . | 22 . g.43375
AGCAAAGGGGAGCTACAGAAGATCCTGGCCCACTTGGAAGATGAGAACCG | GATTCTCCAG c.2400
S K G E L Q K I L A H L E D E N R | I L Q p.800
. . . . . . g.43435
GGAGAGCTGAGGCGCCTGAAGTGGCAGCATGAGGAGGCAGCTGAGGCACCCAGTCTGGCT c.2460
G E L R R L K W Q H E E A A E A P S L A p.820
. . . . . . g.43495
GACGGCTCCACTGAGGCAGCAACAGACCACCGCAATGAGGAGCTTCTGGCCGAGGCCCGT c.2520
D G S T E A A T D H R N E E L L A E A R p.840
. . . . . . g.43555
ATCCTTCGGCAACATAAGAGCCGCCTGGAGACGCGCATGCAGATCCTCGAAGATCACAAC c.2580
I L R Q H K S R L E T R M Q I L E D H N p.860
. . . . | 23 . g.45117
AAGCAGCTAGAGTCCCAGCTGCAGCGTCTGAGGGAGCTTCTCCTGCAG | CCACCCACCGAA c.2640
K Q L E S Q L Q R L R E L L L Q | P P T E p.880
. . . . . . g.45177
TCAGATGGCAGTGGCTCTGCAGGCTCGTCCCTAGCTTCCTCTCCACAGCAGTCAGAAGGC c.2700
S D G S G S A G S S L A S S P Q Q S E G p.900
. . . . | 24 . g.45564
AGTCACCCCCGGGAGAAGGGACAGACTACTCCAGATACCGAGGCTGCAG | ATGATGTGGGG c.2760
S H P R E K G Q T T P D T E A A D | D V G p.920
. . . . . . g.45624
TCAAAGAGCCAGGATGTCAGCCTGTGCTTGGAGGACATCATGGAGAAACTCCGTCATGCC c.2820
S K S Q D V S L C L E D I M E K L R H A p.940
. . . . . g.45678
TTCCCCAGTGTGCGAAGTTCTGATGTGACTGCCAACACCCTGCTGGCCTCTTGA c.2874
F P S V R S S D V T A N T L L A S X p.957
. . . . . . g.45738
tggagccagatccccatcctatagttcatagtcctctcctggttccggtcaaagcctttc c.*60
. . . . . . g.45798
ctcagccttcacccaacctttccagtttccactggccccacattcctcaactagtattat c.*120
. . . . . . g.45858
ttgggctctgggcagcagcagggatctggtggtatgtgaggtgcatgcgggcagtgatgg c.*180
. . . . . . g.45918
gagaaggggaggcatgattcttctgaccctagaaatgttccctttaatcttcaagttcga c.*240
. . . . . . g.45978
gatcagccctttaagtacctttctgttgcagcccaggcaaatatcacttggccattcaga c.*300
. . . . . . g.46038
tggggagcagagaagctgccttgcagagctaagcggtacatgttggcccctcttccttct c.*360
. . . . . . g.46098
ccgtggaattatggaaagagagaagcctaattaccccaaggttccatccagcattatgaa c.*420
. . . . . . g.46158
tccacagggtttacccctactctctggcgcaactcagggaggcaaaagggtatccccgag c.*480
. . . . . . g.46218
acaccttccccaccccaagtgcccctgaaaaagtctgggcagtgtgtgttctattacttc c.*540
. . . . . . g.46278
agctccaggacagattgctagccatcctaatgctacctaggtattggtttctcctcaaat c.*600
. . . . . . g.46338
atcttcattttctttagcctcagtccctgacagaccttccttaaggggagaacagttcat c.*660
. . . . . . g.46398
tctggttcttctacgttatatttggaagcattaaatccatacttatgggtttagattttt c.*720
. . . . . . g.46458
tttttgccccacatcttcctatttcttaaagtcctcagcattttgagagacccactgagt c.*780
. . . . . . g.46518
tgcgagttgctctggaaacctggctgaagccaccctttgctcctctgagtctgtcctcac c.*840
. . . . . . g.46578
agacctgaggacacagtggcagcttgctgagcaagggagtgttgctttccttgggtaagg c.*900
. . . . . . g.46638
aagaggaagcccacctcaagtctggagtagtatgactgccatccaacacccttccaggct c.*960
. . . . . . g.46698
gtgacccttctagctctcaggctgaatcaggtgaggtggctgattgtccccagctaatca c.*1020
. . . . . . g.46758
taaggcatttgcaactggctaccgtgtgtagtggcccctccataggagccacaggccaca c.*1080
. . . . . . g.46818
aatcaggaagctggccactttccacccagacaacaacagcaaggccttcctgtgcctaaa c.*1140
. . . . . . g.46878
attgttatttctaactctggaaggtgaatccaatcctcaaactgaactagctcttcctag c.*1200
. . . . . . g.46938
gcgacatataccatgatctctttatccagaaactgttcagaatagatagtaggggtgggg c.*1260
. . . . . . g.46998
gagtgggcttgggaatgttgaatagattcagagcccacttaggcagctttctcccaagag c.*1320
. . . . . . g.47058
gagctttataacctagagccctgcagttgacttcatttgcctaagtttatatacatacat c.*1380
. . . . . . g.47118
atctattctacatatctactgtacatcagtgctctcctggcctcactcacacattaaatt c.*1440
. . . . . . g.47178
ctaatacctcttgaagtattaatgttctgccttgctctttgttagccccagcctctggtt c.*1500
. . . . . . g.47238
ggaaagatagatgtatcctggctgttcccctaggatatctctctccattgatgtttgggg c.*1560
. . . . . . g.47298
tgggctgtcctcaagaccaaagcaacagaaacctgtggtcacagagaatctaacaggaag c.*1620
. . . . . . g.47358
agtcactgttctcttcactcattccaaatcttgttcccttgagacctgggccttgggtga c.*1680
. . . . . . g.47418
attttcctgggctcccctaaatggttcaggtgccaaaatagagcaaacccaagctctgcc c.*1740
. . . . . . g.47478
caccccatgcagaaaaggacaaacaggcctttattagcctttgccagctaagacacagag c.*1800
. . . . . . g.47538
aacattctctggtcccttccagctcttatggtctcactcagggctaaagaaagcaacagt c.*1860
. . . . . . g.47598
tgccaccacaatcaggagggagtgacggttggggtgttgtattataatccagcagtgggc c.*1920
. . . . . . g.47658
cagtgggtagaactgctaggaacctagtttgatctgctgcaggggaggcagggcagtggc c.*1980
. . . . . . g.47718
ttgggtccagaagcttagggttgcctcctccaccactaagtcacaggtccagggtgtcag c.*2040
. . . . . . g.47778
acttcacagcataacatctgccttagtgttcatgaggtctctgggcaggagaactgggta c.*2100
. . . . . . g.47838
tctggatagatggttgagcaggtggtaggcgggcatcaatcatagaacctgggcatcagt c.*2160
. . . . . . g.47898
cagagtgggagcatatttgtagaagcctagattgtgggcgggaatgtgggacggagggct c.*2220
. . . . . . g.47958
caaggactttggaggcatatgcctgcctaagccttaggcgggtacatgttatggagcaat c.*2280
. . . . . . g.48018
tttttaccaggaaagtcctggaaaatcttttctgttatccccaccccacctgagagctct c.*2340
. . . . . . g.48078
tgggctgctgagggcctgtggcaactgcagtgggccaggcatggtagaaaagatgtagat c.*2400
. . . . . . g.48138
cttgttatgtaggatttgcgttgtaggtggactgaagcagcaggtcaagagttgaattct c.*2460
. . . . . . g.48198
cactaaggggtcactgacattttgtggtcctgtgtttaccttaatgcctaaggtgagtgt c.*2520
. . . . . . g.48258
attgttcaagggtccagggacagtcactgcagtatgtgtggggaattttcccacagtaag c.*2580
. . . . . . g.48318
gtaaatggatccttgggtactatgaatccaacttggggttggatttaccaaaatgtgttg c.*2640
. . . . . . g.48378
tatgttgttagacatcttgttgtgtattagtcttctaaggatattgtgcatggcactgtg c.*2700
. . . . . . g.48438
tagtttatagccctacactggaaggatggtgaagggagttgctagattgatagcctaaag c.*2760
. . . . . . g.48498
aaaaccttctgactgtgggattagcatcaatgataaggaatgtgagcatttgctggggtt c.*2820
. . . . . . g.48558
gttgtcaaatagtatcagagaacagttaggactgagaggtgatttcttcttgacagaatt c.*2880
. . . . . . g.48618
tgatagaggccaaaaagccattacgaggatacctctgcttccagtgacagcagagtggat c.*2940
. . . . . . g.48678
tcacattgattgggcattgtcacggaaggctgactagctggaggacatcaggctgtgcta c.*3000
. . . . . . g.48738
tgcttccctagggaggacatgtgcccttccctccagattagaaaggctagaatcaagagt c.*3060
. . . . . . g.48798
ttcaagtgctcattttcttcaaggtccaaggttgggaactatttccctacagagaaatct c.*3120
. . . . . . g.48858
gtttgagtttctggtgctccaggaaatgggttggcaggacacagaaatgagaaaccctga c.*3180
. . . . . . g.48918
ggccaggaagaggccaatcctaggagatgttttccctccagattcattttaaggaatatc c.*3240
. . . . . . g.48978
tgtgcttcctgatgtgtgtgcttgagatttgggctctatatccagcatttgaactcacat c.*3300
. . . . . . g.49038
tctcagtggcagagtcatggtctgtggcaccatttcaaggccaaaaatcccatccaattt c.*3360
. . . . . . g.49098
cccttcacatagatgacagaaaagcaagaaagtagctgccttaactcgaacagttctggg c.*3420
. . . . . . g.49158
aaaaaaactgggggccttgtcctgaggctgtggagacttaattcttcagctgggtggttc c.*3480
. . . . . . g.49218
ccgtaggaacaaggaacactttagctacttcttactcttttaacaccaatggctgtggga c.*3540
. . . . . . g.49278
gaaggaaaggctcaaggccagggctcagctcgcagagtccatcttctcccacagttgcca c.*3600
. . . . . . g.49338
catttgagagggggcctgctgaatgcccttgctgtcccctatggcagtattgaggcctga c.*3660
. . . . . . g.49398
ccgaagtctggtatgctgcttgctggctacaagaactggtcacaggatgaaaattgggga c.*3720
. . . . . . g.49458
aaggatttgggggaggtgacaagggtggcatggaagtctaggggacaaagggacagggtt c.*3780
. . . . . . g.49518
gggaacaaattggttaactttgattgccactcactgtggtgctttccccctttcccttga c.*3840
. . . g.49553
attctgctttgaaaagaataaatttgtacttgttt c.*3875
(downstream sequence)
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